ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.671+5G>A

dbSNP: rs587784280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147053 SCV000194398 likely pathogenic Lissencephaly due to LIS1 mutation 2013-02-08 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000147053 SCV000786719 likely pathogenic Lissencephaly due to LIS1 mutation criteria provided, single submitter research The heterozygous c.671+5G>A variant was identified by our study in one individual with Lissencephaly. Trio analysis showed this variant to be de novo. This variant is located in the extended slice site According to alamut it eliminates a splice donor site 5 nucleotides from the canonical splice site, and weakens the splice donor site of intron 7 by 2/5 splice predictors. ESEfinder predicts the splice donor site to be unaffected but the donor site 5 nucleotides away is eliminated. This variant was absent from large population studies but it was entered in ClinVar by UChicago as likely pathogenic. They reported that they identified this variant in one individual with Lissencephaly. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.

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